Mutations in Inherited and Sporadic Leukemia.

is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in are usually secondary events, whereas in FPD/AML they are initiating events. Here we will describe mutations in in sporadic AML and in FPD/AML, discuss the mechanisms by which inherited mutations in could elevate the risk of AML in FPD/AML individuals, and speculate on why mutations in are rarely, if ever, the first event in sporadic AML.